Splenogonadal fusion with limb defects and micrognathia

Preferred Label : Splenogonadal fusion with limb defects and micrognathia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Splenogonadal fusion limb defect syndrome; Sgfld syndrome;

Description : Splenogonadal fusion (SGF) is a rare congenital anomaly of abnormal fusion between the spleen and the gonad or the remnants of the mesonephros. In 'continuous SGF,' there is a cord-like connection between the 2 organs, whereas in 'discontinuous SGF,' there is fusion of accessory splenic tissue and the gonad without a distinct structural connection to the spleen itself. Forty-eight percent of individuals with continuous SGF have additional malformations, compared to 9% of those with discontinuous SGF (McPherson et al., 2003).;

Inheritance : Autosomal dominant;

Prefixed ID : 183300;

Details

Origin ID

183300;

UMLS CUI

C1866745;

Currated CISMeF NLP mapping
- Splenogonadal fusion limb defects micrognatia [MeSH concept]
- Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) [SNOMED CT concept]
- Splenogonadal fusion-limb defects-micrognathia syndrome [ORDO Disease]
- splenogonadal fusion limb defects micrognatia [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the genitourinary system [HPO term]
- Autosomal dominant inheritance [HPO term]
- Crowded maxillary incisors [HPO term]
- Micrognathia [HPO term]
- Multiple unerupted teeth [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
ORDO concept(s)
- Splenogonadal fusion-limb defects-micrognathia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Splenogonadal fusion limb defects micrognatia [MeSH concept]
- Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) [SNOMED CT concept]
- Splenogonadal fusion-limb defects-micrognathia syndrome [ORDO Disease]
- splenogonadal fusion limb defects micrognatia [MeSH Supplementary Concept]

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